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Disease Information for Fucosidosis (Anderson-Fabry): Disease Mechanism & Classification

Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/22 mutations of gene locus identified; Pathophysiology/Alpha-1-fucosidase deficiency; Pathophysiology/Alpha-L-fucosidase deficiency; Pathophysiology/Fucose accumulation/tissue/effect; Pathophysiology/Fucose-glycosphinglipids/glycoprotein accumulate; Pathophysiology/Gene locus 1p36; Pathophysiology/Gene locus 1p36.1; Pathophysiology/Gene locus 1p36.1-p34.1; Pathophysiology/Gene locus Chromosome 1; Pathophysiology/Gene locus Chromosome 1 (1p24); Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Juvenile disease milder than infantile; Pathophysiology/Lysosome storage disorder (ex); Pathophysiology/Nonsense mutations seen; Pathophysiology/Specific lipid accumulation tissues; Pathophysiology/Subset juvenile form/variant occurs
: Pathophysiology/salivary gland involvement
: Pathophysiology/Hereditary disease renal effect
: Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Disease with many subtypes (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Genetic expressivity variable (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Lipidosis/storage disorder (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Storage disorder (ex); PROCESS/Two/multiple subsets/disease pattern
: PROCESS/Developmental degenerative neurological disorder (ex)
: PROCESS/Dystostosis/craniofacial (ex)

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